COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disease
The COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. Alport syndrome is a progressive genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. This specific test focuses on the COL4A5 gene, which is responsible for the X-linked form of Alport syndrome – the most common inheritance pattern affecting approximately 80% of cases.
What This Test Measures and Detects
Our advanced Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the COL4A5 gene to identify pathogenic variants that disrupt the production of type IV collagen. This collagen is essential for the structural integrity of basement membranes in the kidneys, ears, and eyes. The test specifically detects:
- Missense mutations affecting collagen protein structure
- Nonsense mutations leading to premature stop codons
- Frameshift mutations disrupting the reading frame
- Splice site mutations affecting RNA processing
- Large deletions and duplications within the COL4A5 gene
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms or family history suggestive of Alport syndrome:
- Persistent microscopic or gross hematuria (blood in urine)
- Progressive sensorineural hearing loss, especially in childhood
- Family history of kidney failure or dialysis
- Unexplained proteinuria or elevated creatinine levels
- Anterior lenticonus or retinal abnormalities
- Female carriers with mild symptoms seeking genetic confirmation
- Family planning decisions when there’s known family history
Clinical Benefits of Early Detection
Early genetic diagnosis through COL4A5 testing provides numerous clinical advantages:
- Proactive Management: Enables early intervention with ACE inhibitors to slow kidney disease progression
- Family Planning Guidance: Provides accurate genetic counseling for reproductive decisions
- Personalized Monitoring: Tailors surveillance protocols for kidney function, hearing, and vision
- Treatment Optimization: Guides appropriate therapeutic approaches based on genetic findings
- Psychological Relief: Reduces diagnostic uncertainty and provides clear answers
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates a pathogenic variant in the COL4A5 gene, confirming X-linked Alport syndrome diagnosis and enabling targeted management
- Negative Result: Suggests absence of detectable COL4A5 mutations, though clinical follow-up may still be warranted
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and family studies
- Carrier Status: For females, determines X-linked carrier status with implications for offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney disease affect your quality of life. Our COL4A5 Gene Alport Syndrome X-Linked NGS Genetic DNA Test provides definitive answers and empowers you with knowledge for better health management. Early detection can significantly impact treatment outcomes and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Take the first step toward genetic clarity and proactive health management. Book your COL4A5 genetic test now and gain the peace of mind that comes with definitive diagnostic information.
